Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis

Li, Haishan; Zhang, Lingling; Jiang, Quan; Shi, Zhenwang; Tong, Hanxing

doi:10.3892/etm.2017.4122

Cited by 6 publications

(4 citation statements)

References 27 publications

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“…Congenital retinal pigment epithelial cell hypertrophy occurs only in patients with mutations between codon 457 and codon 1444 14. Mutations with extra-polyp phenotypes, such as dermatofibroma, osteoma, epidermoid cysts and upper gastrointestinal polyps, were found to be the most common mutations between codons 1445 and 1578 or codons 1395 and 1493 15. In our patient, we found masses of various sizes distributed over the colon and rectum, and malignant lesions were noted in the colon and the rectum.…”

Section: Discussionmentioning

confidence: 47%

c.1439delA frameshift deletion mutation in familial adenomatous polyposis

Ma¹,

Wang²,

Yue³

et al. 2018

OTT

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Familial adenomatous polyposis (FAP) is a rare autosomal dominant genetic disease related to germline mutations of the APC gene. The clinical features of this disease most commonly include hundreds of adenomas or polyps. If not treated in a timely fashion, FAP can eventually result in colorectal carcinoma. In this report, clinical manifestations, family history, relevant auxiliary examinations and gene detection from patient blood led us to discover a novel frameshift mutation in exon 12 of the APC gene. The deletion of adenine in c.1439 resulted in the formation of codon 480. The occurrence of this frameshift deletion may lead to inexpressibility of the main functional regions in APC and may affect gene function. In addition, colonoscopy and histopathology showed malignant changes in the colon and rectum. There have been no reports of this frameshift mutation, but it can be considered in case of APC mutations and FAP in patients with clinical manifestations; auxiliary examination may be related, and it may be used as a reference for preventive clinical treatment in the future.

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Section: Discussionmentioning

confidence: 47%

c.1439delA frameshift deletion mutation in familial adenomatous polyposis

Ma¹,

Wang²,

Yue³

et al. 2018

OTT

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“…Also, a 5 nucleotide deletion at the hot spot codon 1309 (c.3927_3931delAAAGA) in 15% of the FAP cases is reported to be the most frequent germline mutations 2,28,29 . Many studies have also reported positive correlations between experimental manifestations and APC mutations 30‐32 . Friedl et al, 33 Plawski et al, 34 and Kashfi et al 35 Investigated APC mutations in unrelated FAP patients and found different nucleotide deletions in hot spot codons.…”

Section: Discussionmentioning

confidence: 99%

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP)

Ghadamyari

Heidari

Zeinali

et al. 2021

Clinical Laboratory Analysis

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Background Familial adenomatous polyposis (FAP) as a colon cancer predisposition syndrome is an autosomal‐dominant inherited condition and is diagnosed by the progress of hundreds or thousands of adenomatous colonic polyps in the colon. This study aims at the nature and effect of Adenomatous Polyposis Coli (APC) gene mutations in FAP tumorigenesis. Methods The genetic screening of 59 FAP Iranian patients in 10 families was performed by polymerase chain reactions and the direct sequencing of the entire coding exons of the APC gene. To do linkage haplotype analysis and multiplex PCR‐based microsatellite examination, six short tandem repeat loci were selected in this gene. To evaluate and predict the potentially deleterious effects, comprehensive bioinformatics pathogenicity assays were used. Results A total of 12 germline heterozygous and homozygous nucleotide variations were identified. They included two missense mutations, four nonsense mutations, which would lead to the truncated and nonfunctional protein products, four synonymous or silent variations, and two nucleotide deletions of 1 to 5 bp or frameshift mutations. In addition, three novel heterozygous nonsense mutations were found in exons 10, 14, and 15 of the gene. There was also p.Arg653Met as a novel heterozygote mutation in exon 14 of the gene. Conclusions Bioinformatics analysis and three‐dimensional structural modeling predicted that these missense and nonsense mutations generally are associated with the deleted or truncated domains of APC and have functional importance and mainly affected the APC protein. These findings may provide evidence for the progress of potential biomarkers and help to understand the role of the APC gene in FAP.

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“…Adenomas at the ampulla of Vater can obstruct bile flow and pancreaticobiliary enzymes, leading to acute pancreatitis. 16 Among the extra colonic alterations, including other types of cancers, gastric and duodenal polyps, desmoids tumors, 17 congenital hypertrophy of the retinal pigment epithelium, 17,21 osteomas, 21 epidermal cysts, 17 and oral abnormalities, 21 which are reported to be present from 58 to 100% of affected individuals. 17 Among these include ST, 2,17,22 appeared in 11-27% of patients, mostly between teeth in the alveolar bone or attached to follicle of an impacted tooth, common sites were anterior and around canines, 2 dentigerous cysts, 22 unerupted teeth, 17,22 congenital absence of one or more teeth, 22 odontomas, 17,22 and osseous jaw lesions.…”

Section: Familial Adenomatous Polyposismentioning

confidence: 99%

Main genetic entities associated with supernumerary teeth

Cammarata‐Scalisi

Avendaño

Callea

2018

Arch Argent Pediatr

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Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent dentition. The prevalence has been reported between 0.2 to 3%, and is more frequent in males than females. The etiology is heterogeneous, highly variable and most of the cases are idiopathic. However, the presence of multiple impacted or erupted supernumerary teeth is rare and associated with some genetic syndromes: cleidocranial displasia, familial adenomatous polyposis, trichorhinophalangeal syndrome type I, Rubinstein-Taybi syndrome, Nance-Horan syndrome, Opitz G/BBB syndrome, oculofaciocardiodental syndrome and Robinow syndrome (autosomal dominant). The supernumerary teeth should be considered in order to possibly diagnose these entities with the aim of offering an interdisciplinary management and treatment, as well as offer adequate family genetic counseling.

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Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis

Cited by 6 publications

References 27 publications

c.1439delA frameshift deletion mutation in familial adenomatous polyposis

c.1439delA frameshift deletion mutation in familial adenomatous polyposis

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP)

Main genetic entities associated with supernumerary teeth

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